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Protein

Atypical kinase COQ8B, mitochondrial

Gene

COQ8B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).By similarity1 Publication

Enzyme regulationi

Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei219ATPBy similarity1
Binding sitei237ATPBy similarity1
Active sitei367Proton acceptorBy similarity1
Binding sitei372ATPBy similarity1
Binding sitei386ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi324 – 327ATPBy similarity4

GO - Molecular functioni

GO - Biological processi

  • cerebellar Purkinje cell layer morphogenesis Source: UniProtKB
  • ubiquinone biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000123815-MONOMER.
ZFISH:ENSG00000123815-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Atypical kinase COQ8B, mitochondrialCurated (EC:2.7.-.-By similarity)
Alternative name(s):
AarF domain-containing protein kinase 4Imported
Coenzyme Q protein 8BCurated
Gene namesi
Name:COQ8BImported
Synonyms:ADCK4Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:19041. COQ8B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei92 – 108HelicalSequence analysisAdd BLAST17

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 9 (NPHS9)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.
See also OMIM:615573
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07686198L → R in NPHS9. 1 Publication1
Natural variantiVAR_070552178R → W in NPHS9. 2 PublicationsCorresponds to variant rs398122978dbSNPEnsembl.1
Natural variantiVAR_070553286D → G in NPHS9. 1 PublicationCorresponds to variant rs398122979dbSNPEnsembl.1
Natural variantiVAR_076862310P → L in NPHS9. 1 Publication1
Natural variantiVAR_070554320R → W in NPHS9. 1 PublicationCorresponds to variant rs369573693dbSNPEnsembl.1
Natural variantiVAR_070555343R → W in NPHS9. 1 PublicationCorresponds to variant rs398122981dbSNPEnsembl.1
Natural variantiVAR_070556477R → Q in NPHS9. 1 Publication1
Natural variantiVAR_076863498A → E in NPHS9. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi79934.
MalaCardsiADCK4.
MIMi615573. phenotype.
OpenTargetsiENSG00000123815.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA134988974.

Chemistry databases

ChEMBLiCHEMBL5753.
GuidetoPHARMACOLOGYi1928.

Polymorphism and mutation databases

BioMutaiADCK4.
DMDMi74731415.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002717971 – 544Atypical kinase COQ8B, mitochondrialAdd BLAST544

Proteomic databases

EPDiQ96D53.
MaxQBiQ96D53.
PaxDbiQ96D53.
PeptideAtlasiQ96D53.
PRIDEiQ96D53.

PTM databases

iPTMnetiQ96D53.
PhosphoSitePlusiQ96D53.

Expressioni

Tissue specificityi

Widely expressed, including renal podocytes.1 Publication

Gene expression databases

BgeeiENSG00000123815.
CleanExiHS_ADCK4.
ExpressionAtlasiQ96D53. baseline and differential.
GenevisibleiQ96D53. HS.

Organism-specific databases

HPAiHPA027229.
HPA027277.
HPA027279.
HPA028303.

Interactioni

Subunit structurei

Homodimer; homodimerizes via its transmembrane region (PubMed:25216398). Interacts with COQ6 and COQ7 (PubMed:24270420). Interacts with the multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9 (PubMed:27499296).3 Publications

Protein-protein interaction databases

BioGridi123009. 33 interactors.
IntActiQ96D53. 2 interactors.
STRINGi9606.ENSP00000315118.

Chemistry databases

BindingDBiQ96D53.

Structurei

3D structure databases

ProteinModelPortaliQ96D53.
SMRiQ96D53.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini191 – 423Protein kinaseAdd BLAST233

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi155 – 158KxGQ motifBy similarity4
Motifi216 – 219AAAS motifBy similarity4

Domaini

Adopts an atypical protein kinase-like fold: while it adopts a core fold similar to that of well-characterized protein kinase-like domains. The KxGQ motif completely occludes the typical substrate binding pocket. Nucleotide-binding opens the substrate binding pocket and flips the active site from inside the hydrophobic core into a catalytically competent, solvent-exposed posture.By similarity

Sequence similaritiesi

Contains 1 protein kinase domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1234. Eukaryota.
COG0661. LUCA.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ96D53.
KOiK08869.
OMAiPCGGSWA.
OrthoDBiEOG091G02P9.
PhylomeDBiQ96D53.
TreeFamiTF300630.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96D53-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWLKVGGLLR GTGGQLGQTV GWPCGALGPG PHRWGPCGGS WAQKFYQDGP
60 70 80 90 100
GRGLGEEDIR RAREARPRKT PRPQLSDRSR ERKVPASRIS RLANFGGLAV
110 120 130 140 150
GLGLGVLAEM AKKSMPGGRL QSEGGSGLDS SPFLSEANAE RIVQTLCTVR
160 170 180 190 200
GAALKVGQML SIQDNSFISP QLQHIFERVR QSADFMPRWQ MLRVLEEELG
210 220 230 240 250
RDWQAKVASL EEVPFAAASI GQVHQGLLRD GTEVAVKIQY PGIAQSIQSD
260 270 280 290 300
VQNLLAVLKM SAALPAGLFA EQSLQALQQE LAWECDYRRE AACAQNFRQL
310 320 330 340 350
LANDPFFRVP AVVKELCTTR VLGMELAGGV PLDQCQGLSQ DLRNQICFQL
360 370 380 390 400
LTLCLRELFE FRFMQTDPNW ANFLYDASSH QVTLLDFGAS REFGTEFTDH
410 420 430 440 450
YIEVVKAAAD GDRDCVLQKS RDLKFLTGFE TKAFSDAHVE AVMILGEPFA
460 470 480 490 500
TQGPYDFGSG ETARRIQDLI PVLLRHRLCP PPEETYALHR KLAGAFLACA
510 520 530 540
HLRAHIACRD LFQDTYHRYW ASRQPDAATA GSLPTKGDSW VDPS
Length:544
Mass (Da):60,069
Last modified:October 1, 2002 - v2
Checksum:i4645DF579B9DFA4B
GO
Isoform 2 (identifier: Q96D53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-163: Missing.

Note: No experimental confirmation available.
Show »
Length:503
Mass (Da):55,853
Checksum:i547A81982FE22A6A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti164 – 166DNS → GTA in BAB14004 (PubMed:14702039).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04142078R → C.1 PublicationCorresponds to variant rs11538384dbSNPEnsembl.1
Natural variantiVAR_07686198L → R in NPHS9. 1 Publication1
Natural variantiVAR_029995174H → R.1 PublicationCorresponds to variant rs3865452dbSNPEnsembl.1
Natural variantiVAR_070552178R → W in NPHS9. 2 PublicationsCorresponds to variant rs398122978dbSNPEnsembl.1
Natural variantiVAR_070553286D → G in NPHS9. 1 PublicationCorresponds to variant rs398122979dbSNPEnsembl.1
Natural variantiVAR_076862310P → L in NPHS9. 1 Publication1
Natural variantiVAR_041421318T → M.1 PublicationCorresponds to variant rs55899516dbSNPEnsembl.1
Natural variantiVAR_070554320R → W in NPHS9. 1 PublicationCorresponds to variant rs369573693dbSNPEnsembl.1
Natural variantiVAR_070555343R → W in NPHS9. 1 PublicationCorresponds to variant rs398122981dbSNPEnsembl.1
Natural variantiVAR_041422352T → R.1 PublicationCorresponds to variant rs36012476dbSNPEnsembl.1
Natural variantiVAR_041423462T → M.1 PublicationCorresponds to variant rs56083906dbSNPEnsembl.1
Natural variantiVAR_070556477R → Q in NPHS9. 1 Publication1
Natural variantiVAR_076863498A → E in NPHS9. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022357123 – 163Missing in isoform 2. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
CCDSiCCDS12562.1. [Q96D53-1]
CCDS46081.1. [Q96D53-2]
RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
NP_079152.3. NM_024876.3. [Q96D53-1]
UniGeneiHs.130712.

Genome annotation databases

EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
GeneIDi79934.
KEGGihsa:79934.
UCSCiuc002ooq.3. human. [Q96D53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC013114 mRNA. Translation: AAH13114.2.
BC027473 mRNA. Translation: AAH27473.1.
AK022291 mRNA. Translation: BAB14004.1.
CCDSiCCDS12562.1. [Q96D53-1]
CCDS46081.1. [Q96D53-2]
RefSeqiNP_001136027.1. NM_001142555.2. [Q96D53-2]
NP_079152.3. NM_024876.3. [Q96D53-1]
UniGeneiHs.130712.

3D structure databases

ProteinModelPortaliQ96D53.
SMRiQ96D53.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123009. 33 interactors.
IntActiQ96D53. 2 interactors.
STRINGi9606.ENSP00000315118.

Chemistry databases

BindingDBiQ96D53.
ChEMBLiCHEMBL5753.
GuidetoPHARMACOLOGYi1928.

PTM databases

iPTMnetiQ96D53.
PhosphoSitePlusiQ96D53.

Polymorphism and mutation databases

BioMutaiADCK4.
DMDMi74731415.

Proteomic databases

EPDiQ96D53.
MaxQBiQ96D53.
PaxDbiQ96D53.
PeptideAtlasiQ96D53.
PRIDEiQ96D53.

Protocols and materials databases

DNASUi79934.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243583; ENSP00000243583; ENSG00000123815. [Q96D53-2]
ENST00000324464; ENSP00000315118; ENSG00000123815. [Q96D53-1]
GeneIDi79934.
KEGGihsa:79934.
UCSCiuc002ooq.3. human. [Q96D53-1]

Organism-specific databases

CTDi79934.
DisGeNETi79934.
GeneCardsiADCK4.
HGNCiHGNC:19041. COQ8B.
HPAiHPA027229.
HPA027277.
HPA027279.
HPA028303.
MalaCardsiADCK4.
MIMi615567. gene.
615573. phenotype.
neXtProtiNX_Q96D53.
OpenTargetsiENSG00000123815.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA134988974.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1234. Eukaryota.
COG0661. LUCA.
GeneTreeiENSGT00550000074739.
HOGENOMiHOG000201140.
HOVERGENiHBG061318.
InParanoidiQ96D53.
KOiK08869.
OMAiPCGGSWA.
OrthoDBiEOG091G02P9.
PhylomeDBiQ96D53.
TreeFamiTF300630.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000123815-MONOMER.
ZFISH:ENSG00000123815-MONOMER.

Miscellaneous databases

ChiTaRSiADCK4. human.
GenomeRNAii79934.
PROiQ96D53.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123815.
CleanExiHS_ADCK4.
ExpressionAtlasiQ96D53. baseline and differential.
GenevisibleiQ96D53. HS.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR004147. UbiB_dom.
[Graphical view]
PfamiPF03109. ABC1. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ8B_HUMAN
AccessioniPrimary (citable) accession number: Q96D53
Secondary accession number(s): Q8TAJ1, Q9HA52
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.